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23 Possible Causes for Congenital Hemolytic Anemia, Round Face in Infancy

  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Pyrimidine 5' nucleotidase deficiency presents with congenital hemolytic anemia because the residual nucleotides in young red cells (reticulocytes) cannot be metabolized and[cancertherapyadvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com]

  • Mowat-Wilson Syndrome

    In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] P70-P74 ) Endocrine, nutritional and metabolic diseases E70-E88 2019 ICD-10-CM Range E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital[icd10data.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] […] amaurosis HARS Usher syndrome HCN1 Cone rod dystrophy HGSNAT recessive retinitis pigmentosa HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency HMCN1 dominant[molecularvisionlab.com] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

  • Glycogen Storage Disease Type 3

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

  • Glycogen Storage Disease Type 6

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

  • Glycogen Storage Disease Type 9

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

  • Cole-Carpenter Syndrome

    Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] 4, autosomal recessive 612541 G6PD Xq28 Favism 134700 Hemolytic anemia due to G6PD deficiency 300908 Resistance to malaria due to G6PD deficiency 611162 GAA 17q25.3 Glycogen[institutobernabeu.com] Abnormality of the skeletal system Pain Orbital craniosynostosis Bowing of the legs Motor delay Respiratory insufficiency Long philtrum Joint laxity Narrow chest Death in infancy[mendelian.co]

  • Congenital Non-Progressive Ataxia

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Hemolytic anemia due to red cell pyruvate kinase deficiency Hemophagocytic lymphohistiocytosis Hemophilia A Hemophilia B Hereditary angioedema Hereditary breast cancer Hereditary[igenomix.us] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

  • Autosomal Dominant Mental Retardation Type 21

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia Leukomelanoderma, Infantilism, Mental[rgd.mcw.edu] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

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